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‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
BACKGROUND: Metaphyseal dysplasia without hypotrichosis (MDWH) is a rare form of chondrodysplasia with no extraskeletal manifestations. MDWH is caused by RMRP mutations, but it is differentiated from the allelic condition cartilage-hair hypoplasia (CHH), which in addition to chondrodysplasia is char...
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| Wydane w: | J Med Genet |
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| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Publishing Group
2020
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6929920/ https://ncbi.nlm.nih.gov/pubmed/31413121 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106131 |
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